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Apo CII deficiency
Research Genetic test
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offered by
Department of Endocrinology and Metabolism
GTR Test Accession: Help GTR000530088.4
INHERITED DISEASE
Last updated in GTR: 2024-06-11
View version history
Last annual review date for the lab: 2024-06-11 LinkOut
At a Glance
Conditions (1): Help
Hyperlipoproteinemia type IV
Genes (1): Help
APOC2 (19q13.32)
Study description: Help
Molecular identification of causative mutations in the APOC2 gene by …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Molecular identification of causative mutations in the APOC2 gene by direct sequencing and linkage analysis
Offered by: Help
Department of Endocrinology and Metabolism
Person responsible for the study: Help
Minoru Okubo, PhD, MD, Lab Director
Study contact: Help
Minoru Okubo, PhD, MD, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients/families interested in participating in a research study should discuss this option with their health care provider.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Technical Information
Test Procedure: Help
Direct sequencing of APOC2
View citations (2)
  • Okubo M, Toromanovic A, Ebara T, Murase T. Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. Clin Chim Acta. 2015;438:148-53. doi:10.1016/j.cca.2014.08.022. Epub 2014 Aug 27. PMID: 25172036.
  • A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency. A possible interaction between apo C-II deficiency and apo E4 in a severely hypertriglyceridemic patient. Okubo M, et al. Atherosclerosis. 1997;130(1-2):153-60. doi:10.1016/s0021-9150(96)06061-3. PMID: 9126659.
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Test Confirmation
Additional Information

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